Human genetics as a model for target validation: finding new therapies for diabetes (Q30234640)

15 October 2017

4 references

13 March 2019

14 March 2019

24 March 2019

4 February 2021

Human genetics as a model for target validation: finding new therapies for diabetes (English)

1 reference

15 October 2017

1 reference

4 February 2021

Soren K Thomsen

1

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Anna Gloyn

object named as

Anna L Gloyn

series ordinal

2

0 references

publication date

26 April 2017

1 reference

PMCID

5423999

15 October 2017

1 June 2017

4 references

13 March 2019

14 March 2019

24 March 2019

4 February 2021

5 references

15 October 2017

13 March 2019

14 March 2019

24 March 2019

4 February 2021

60

1 reference

15 October 2017

960-970

1 reference

15 October 2017

6

1 reference

Creative Commons Attribution 4.0 International

15 October 2017

4 references

13 March 2019

14 March 2019

24 March 2019

on focus list of Wikimedia project

4 February 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00125-017-4270-y

0 references

cites work

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Variation in PCSK9 and HMGCR and Risk of Cardiovascular Disease and Diabetes

3 June 2018

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3 June 2018

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3 June 2018

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The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes

3 June 2018

1 reference

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3 June 2018

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The genetic architecture of type 2 diabetes

3 June 2018

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Increased Melatonin Signaling Is a Risk Factor for Type 2 Diabetes

3 June 2018

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When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes

3 June 2018

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Pharmacogenomics in diabetes mellitus: insights into drug action and drug discovery

3 June 2018

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Innovation in the pharmaceutical industry: New estimates of R&D costs

3 June 2018

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Unravelling the human genome-phenome relationship using phenome-wide association studies.

3 June 2018

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Progress and promise in understanding the genetic basis of common diseases

3 June 2018

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Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors

3 June 2018

1 reference

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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

3 June 2018

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Excess Mortality among Persons with Type 2 Diabetes

3 June 2018

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SGLT-2 Inhibitors: A New Mechanism for Glycemic Control

3 June 2018

1 reference

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The support of human genetic evidence for approved drug indications

3 June 2018

1 reference

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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

3 June 2018

1 reference

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Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

3 June 2018

1 reference

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SLC30A8 mutations in type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

The pancreatic β cell: recent insights from human genetics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Lessons learned from the fate of AstraZeneca's drug pipeline: a five-dimensional framework

3 June 2018

1 reference

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Guidelines for investigating causality of sequence variants in human disease

3 June 2018

1 reference

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Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

3 June 2018

1 reference

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Searching for missing heritability: designing rare variant association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

3 June 2018

1 reference

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Validating therapeutic targets through human genetics

3 June 2018

1 reference

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Sequencing studies in human genetics: design and interpretation.

3 June 2018

1 reference

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PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Effects of MK-0941, a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Trends in risks associated with new drug development: success rates for investigational drugs

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Assessing the potential of glucokinase activators in diabetes therapy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

A genome-wide association study identifies novel risk loci for type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Mendelian randomization: prospects, potentials, and limitations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Genetic cause of hyperglycaemia and response to treatment in diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?*

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Sulfonylurea stimulation of insulin secretion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

The mode of action of thiazolidinediones

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Nuclear import of hepatic glucokinase depends upon glucokinase regulatory protein, whereas export is due to a nuclear export signal sequence in glucokinase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Germline PTEN mutations in Cowden syndrome-like families.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5423999

Trial watch: phase II and phase III attrition rates 2011-2012.

3 June 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Using human genetics to make new medicines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

On the use of familial aggregation in population-based case probands for calculating penetrance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Molecular scanning of the human peroxisome proliferator activated receptor gamma (hPPAR gamma) gene in diabetic Caucasians: identification of a Pro12Ala PPAR gamma 2 missense mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Opportunities for drug repositioning from phenome-wide association studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Reply to Rational drug repositioning by medical genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Rational drug repositioning by medical genetics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Use of genome-wide association studies for drug repositioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00125-017-4270-Y

21 January 2018

Declassifying diabetes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28447115

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assessing the translatability of drug projects: what needs to be scored to predict success?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28447115

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28447115

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00125-017-4270-Y

1 reference

PMCID

5423999

Dimensions Publication ID

15 October 2017

0 references

1 reference

15 October 2017

1 reference

PMCID

5423999